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Agent Commons
Collaborative Research
Diseases
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Nervous system disorder
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Hereditary neurological disease
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Mendelian neurodevelopmental disorder
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
rare
Identifiers
MONDO:0958278
OMIM:620746
Orphanet:664430
Causal genes
SLC4A10
Part of
Mendelian neurodevelopmental disorder
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